LE SYNDROME DU 46, XX MALE AVEC ABSENCE DU GENE SEX-DETERMINING REGION OF Y (SRY) CHROMOSOME, A PROPOS D'UN CAS.

Absent SRY gonadal dysgenesis (negative) is the set of clinical and biological manifestations linked to the lack of development of the testes in humans. Authors report the first case of gonadal dysgenesis SRY-negative 46, XX male with gynecomastia documented in Mali. Case observation: This is a 15 years old boy of a deaf-mute brother, no family consanguinity. He was referred to the hospital because of severe bilateral gynecomastia. Hypergonado-tropic hypogonadism condition was investigated by hormonal laboratory assessment and the result of cytogenetic analysis carried out in France revealed a karyotype SRY-negative 46, XX isch Yp11, 3. The patient received psychological assistance and substitutive treatment based on testosterone. Reconstructive surgery was also conducted to correct urogenital malformations. Conclusion: Diagnosis of 46, XX male syndrome is rare and need cytogenetic analysis. In Mali, cost and availability of this technique make diagnosis difficult and care inadequate for patients. [ABSTRACT FROM AUTHOR]